List of variants in gene AGL reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	rs113994128	0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	rs531425980	0.00001
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.1996_1999delinsT (p.His666_Gln667delinsTer)	rs886042008
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134
NM_000642.3(AGL):c.753_756del (p.Asp251fs)	rs748789700

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